Neurophysiological Evaluation of Autonomic Dysfunction in Spinal Muscular Atrophy: A Case-Control Study
Table 1
Clinical characteristics of SMA patients.
Age (years)
Gender
SMN2 copies
SMA type
Onset age (mo: months; y: years old)
Age first treatment
Treatment
Walking (6-minute walk test)
Respiratory support
FEV1 (%)
FVC (%)
FEV1/FVC (%)
Scoliosis
Surgical treatment for scoliosis
Patient 1
47
Male
4
III
2 y
46
Nusinersen
0
No
78
88
91
Yes
No
Patient 2
66
Female
3
III
7 y
65
Nusinersen
0
No
105
124
92
Yes
No
Patient 3
22
Male
3
II
16 mo
18
Nusinersen
0
No
51
49
109
Yes
Yes
Patient 4
27
Male
3
II
7 mo
22
Nusinersen
0
No
14
15
99
Yes
Yes
Patient 5
32
Male
3
II
10 mo
32
Risdiplam
0
Yes (BiPap)
NA
NA
NA
Yes
Yes
Patient 6
22
Female
3
II
13 mo
18
Nusinersen
0
No
21
19
116
Yes
Yes
Patient 7
47
Male
3
II
14 mo
43
Nusinersen
0
No
52
49
111
Yes
Yes
Patient 8
48
Female
3
III
18 mo
48
Risdiplam
0
No
51
49
110
Yes
Yes
Patient 9
58
Female
3
III
4 y
58
Risdiplam
0
No
79
77
111
Yes
No
Abbreviations: SMN2: survival motor neuron; SMA: spinal muscular atrophy; FEV1: forced expiratory volume in the first second; FVC: Forced vital capacity; NA: not applicable.
